Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Walker-Warburg syndrome	Orphanet_899	[Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.]
obsolete_Wagner disease	Orphanet_898	[Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.]
clobenpropit dihydrobromide	CHEBI_64165
obsolete_Waardenburg-Shah syndrome	Orphanet_897
obsolete_Waardenburg syndrome type 3	Orphanet_896	[Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin]
obsolete_Waardenburg syndrome type 2	Orphanet_895	[Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum]
obsolete_Waardenburg syndrome type 1	Orphanet_894	[Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.]
obsolete_WAGR syndrome	Orphanet_893	[WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.]
obsolete_von Hippel-Lindau disease	Orphanet_892
Calcaneovalgus deformity	HP_0001848	[This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).]
Familial exudative vitreoretinopathy	Orphanet_891	[Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.]
obsolete_2q23.1 microduplication syndrome	Orphanet_313947
heart leiomyosarcoma	MONDO_0003353	[An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.]
heart sarcoma	MONDO_0003354	[A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.]
heart cancer	MONDO_0001340	[A malignant neoplasm involving the heart]
Overlapping toe	HP_0001845	[Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.]
N-methylquipazine dimaleate	CHEBI_64162
serotonergic drug	CHEBI_48278
granular cell leiomyosarcoma	MONDO_0003350	[An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.]
granular cell cancer	MONDO_0003252	[An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.]